Analysis of the tricho-dento-osseous syndrome genotype and phenotype

J. Tim Wright, Katherine Kula, Kathie Hall, Joey H. Simmons, Thomas C. Hart

Research output: Contribution to journalArticle

59 Citations (Scopus)

Abstract

The tricho-dento-osseous (TDO) syndrome demonstrates kinky curly hair, thin-pitted enamel, taurodontism, and thickening of cortical bone. The purpose of this investigation was to characterize the phenotypic variation of TDO in 3, previously unreported, kindreds and to examine possible candidates for the genomic TDO locus. Thirty-three affected and 20 unaffected individuals were recruited for prospective analysis. Participants were evaluated clinically and photographed by one examiner. Blood was drawn for genetic linkage analyses and radiographs were taken to assess dental and skeletal characteristics. All TDO individuals with teeth had generalized thin and/or pitted enamel hypoplasia. Taurodontism was present in all affected individuals, but was variably expressed. Unique kinky/curly hair at birth was reported in 85% of affected individuals. The curly hair phenotype was retained in 46% of affected individuals after infancy. Thick cranial bones, lack of visible pneumatization of the mastoid process, and/or obliteration of the calvarial diploe was seen in 97% of affected persons compared with 30% of the unaffected individuals. The findings suggest that curly hair at birth, enamel hypoplasia, and taurodontism are highly penetrant yet clinically variable components of TDO. The ABO, Kell, and Gc loci previously suggested to be linked to TDO were excluded as candidates in this TDO population. This investigation characterizes the marked variability in the expression of skeletal, hair, and dental manifestations. The broad range of TDO phenotypes seen in these families, including a variety of skeletal changes, does not support subdividing TDO into multiple subtypes based on subtle phenotypic differences.

Original languageEnglish (US)
Pages (from-to)197-204
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume72
Issue number2
DOIs
StatePublished - Oct 17 1997
Externally publishedYes

Fingerprint

Dental Enamel Hypoplasia
Tooth
Genotype
Phenotype
Parturition
Mastoid
Genetic Linkage
Dental Enamel
Bone and Bones
Population
Taurodontism
Tricho-dento-osseous syndrome

Keywords

  • Bone
  • Enamel
  • Hair
  • Hereditary
  • Linkage
  • Taurodontism
  • Teeth

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Analysis of the tricho-dento-osseous syndrome genotype and phenotype. / Wright, J. Tim; Kula, Katherine; Hall, Kathie; Simmons, Joey H.; Hart, Thomas C.

In: American Journal of Medical Genetics, Vol. 72, No. 2, 17.10.1997, p. 197-204.

Research output: Contribution to journalArticle

Wright, J. Tim ; Kula, Katherine ; Hall, Kathie ; Simmons, Joey H. ; Hart, Thomas C. / Analysis of the tricho-dento-osseous syndrome genotype and phenotype. In: American Journal of Medical Genetics. 1997 ; Vol. 72, No. 2. pp. 197-204.
@article{2b188e29a2094b608f4dc5ed9a582bc3,
title = "Analysis of the tricho-dento-osseous syndrome genotype and phenotype",
abstract = "The tricho-dento-osseous (TDO) syndrome demonstrates kinky curly hair, thin-pitted enamel, taurodontism, and thickening of cortical bone. The purpose of this investigation was to characterize the phenotypic variation of TDO in 3, previously unreported, kindreds and to examine possible candidates for the genomic TDO locus. Thirty-three affected and 20 unaffected individuals were recruited for prospective analysis. Participants were evaluated clinically and photographed by one examiner. Blood was drawn for genetic linkage analyses and radiographs were taken to assess dental and skeletal characteristics. All TDO individuals with teeth had generalized thin and/or pitted enamel hypoplasia. Taurodontism was present in all affected individuals, but was variably expressed. Unique kinky/curly hair at birth was reported in 85{\%} of affected individuals. The curly hair phenotype was retained in 46{\%} of affected individuals after infancy. Thick cranial bones, lack of visible pneumatization of the mastoid process, and/or obliteration of the calvarial diploe was seen in 97{\%} of affected persons compared with 30{\%} of the unaffected individuals. The findings suggest that curly hair at birth, enamel hypoplasia, and taurodontism are highly penetrant yet clinically variable components of TDO. The ABO, Kell, and Gc loci previously suggested to be linked to TDO were excluded as candidates in this TDO population. This investigation characterizes the marked variability in the expression of skeletal, hair, and dental manifestations. The broad range of TDO phenotypes seen in these families, including a variety of skeletal changes, does not support subdividing TDO into multiple subtypes based on subtle phenotypic differences.",
keywords = "Bone, Enamel, Hair, Hereditary, Linkage, Taurodontism, Teeth",
author = "Wright, {J. Tim} and Katherine Kula and Kathie Hall and Simmons, {Joey H.} and Hart, {Thomas C.}",
year = "1997",
month = "10",
day = "17",
doi = "10.1002/(SICI)1096-8628(19971017)72:2<197::AID-AJMG14>3.0.CO;2-I",
language = "English (US)",
volume = "72",
pages = "197--204",
journal = "American Journal of Medical Genetics, Part C: Seminars in Medical Genetics",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "2",

}

TY - JOUR

T1 - Analysis of the tricho-dento-osseous syndrome genotype and phenotype

AU - Wright, J. Tim

AU - Kula, Katherine

AU - Hall, Kathie

AU - Simmons, Joey H.

AU - Hart, Thomas C.

PY - 1997/10/17

Y1 - 1997/10/17

N2 - The tricho-dento-osseous (TDO) syndrome demonstrates kinky curly hair, thin-pitted enamel, taurodontism, and thickening of cortical bone. The purpose of this investigation was to characterize the phenotypic variation of TDO in 3, previously unreported, kindreds and to examine possible candidates for the genomic TDO locus. Thirty-three affected and 20 unaffected individuals were recruited for prospective analysis. Participants were evaluated clinically and photographed by one examiner. Blood was drawn for genetic linkage analyses and radiographs were taken to assess dental and skeletal characteristics. All TDO individuals with teeth had generalized thin and/or pitted enamel hypoplasia. Taurodontism was present in all affected individuals, but was variably expressed. Unique kinky/curly hair at birth was reported in 85% of affected individuals. The curly hair phenotype was retained in 46% of affected individuals after infancy. Thick cranial bones, lack of visible pneumatization of the mastoid process, and/or obliteration of the calvarial diploe was seen in 97% of affected persons compared with 30% of the unaffected individuals. The findings suggest that curly hair at birth, enamel hypoplasia, and taurodontism are highly penetrant yet clinically variable components of TDO. The ABO, Kell, and Gc loci previously suggested to be linked to TDO were excluded as candidates in this TDO population. This investigation characterizes the marked variability in the expression of skeletal, hair, and dental manifestations. The broad range of TDO phenotypes seen in these families, including a variety of skeletal changes, does not support subdividing TDO into multiple subtypes based on subtle phenotypic differences.

AB - The tricho-dento-osseous (TDO) syndrome demonstrates kinky curly hair, thin-pitted enamel, taurodontism, and thickening of cortical bone. The purpose of this investigation was to characterize the phenotypic variation of TDO in 3, previously unreported, kindreds and to examine possible candidates for the genomic TDO locus. Thirty-three affected and 20 unaffected individuals were recruited for prospective analysis. Participants were evaluated clinically and photographed by one examiner. Blood was drawn for genetic linkage analyses and radiographs were taken to assess dental and skeletal characteristics. All TDO individuals with teeth had generalized thin and/or pitted enamel hypoplasia. Taurodontism was present in all affected individuals, but was variably expressed. Unique kinky/curly hair at birth was reported in 85% of affected individuals. The curly hair phenotype was retained in 46% of affected individuals after infancy. Thick cranial bones, lack of visible pneumatization of the mastoid process, and/or obliteration of the calvarial diploe was seen in 97% of affected persons compared with 30% of the unaffected individuals. The findings suggest that curly hair at birth, enamel hypoplasia, and taurodontism are highly penetrant yet clinically variable components of TDO. The ABO, Kell, and Gc loci previously suggested to be linked to TDO were excluded as candidates in this TDO population. This investigation characterizes the marked variability in the expression of skeletal, hair, and dental manifestations. The broad range of TDO phenotypes seen in these families, including a variety of skeletal changes, does not support subdividing TDO into multiple subtypes based on subtle phenotypic differences.

KW - Bone

KW - Enamel

KW - Hair

KW - Hereditary

KW - Linkage

KW - Taurodontism

KW - Teeth

UR - http://www.scopus.com/inward/record.url?scp=0030855974&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030855974&partnerID=8YFLogxK

U2 - 10.1002/(SICI)1096-8628(19971017)72:2<197::AID-AJMG14>3.0.CO;2-I

DO - 10.1002/(SICI)1096-8628(19971017)72:2<197::AID-AJMG14>3.0.CO;2-I

M3 - Article

C2 - 9382143

AN - SCOPUS:0030855974

VL - 72

SP - 197

EP - 204

JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

SN - 1552-4825

IS - 2

ER -