A Recurrent FAM83H Mutation in an Extended Colombian Family and Variable Craniofacial Phenotypes

Camila Alvarez; María Andrea Aragón; Yejin Lee; Sandra Gutiérrez; Patricia Méndez; Dabeiba Adriana García; Liliana Otero; Jung Wook Kim

doi:10.3390/children9030362

A Recurrent FAM83H Mutation in an Extended Colombian Family and Variable Craniofacial Phenotypes

Camila Alvarez, María Andrea Aragón, Yejin Lee, Sandra Gutiérrez, Patricia Méndez, Dabeiba Adriana García, Liliana Otero, Jung Wook Kim

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Abstract

Amelogenesis imperfecta (AI) is a collection of rare genetic disorders affecting the quantity and/or quality of the tooth enamel. AI can be classified into three major types according to the clinical phenotype: hypoplastic, hypocalcified, and hypomatured. Among them, the hypocalcified type shows the weakest physical properties, leaving rough and discolored enamel surfaces after tooth eruption. To date, mutations in the FAM83H gene are responsible for the autosomal-dominant hypocalcified AI. In this study, we recruited a four-generation Colombian family with hypocalcified AI and identified a recurrent nonsense mutation in the FAM83H gene (NM_198488.5:c.1289C>A, p.(Ser430 *)) by candidate gene sequencing. Cephalometric analyses revealed the anterior open bite that occurred in the proband is not correlated with the AI in this family.

Original language	English
Article number	362
Journal	Children
Volume	9
Issue number	3
DOIs	https://doi.org/10.3390/children9030362
State	Published - Mar 2022

Keywords

Anterior open bite
Crown resorption
FAM83H
Hereditary enamel defects
Hypocalcified
Tooth impaction

Access to Document

10.3390/children9030362

Cite this

@article{bed94badc5e545be8d543418aa2406b7,

title = "A Recurrent FAM83H Mutation in an Extended Colombian Family and Variable Craniofacial Phenotypes",

abstract = "Amelogenesis imperfecta (AI) is a collection of rare genetic disorders affecting the quantity and/or quality of the tooth enamel. AI can be classified into three major types according to the clinical phenotype: hypoplastic, hypocalcified, and hypomatured. Among them, the hypocalcified type shows the weakest physical properties, leaving rough and discolored enamel surfaces after tooth eruption. To date, mutations in the FAM83H gene are responsible for the autosomal-dominant hypocalcified AI. In this study, we recruited a four-generation Colombian family with hypocalcified AI and identified a recurrent nonsense mutation in the FAM83H gene (NM_198488.5:c.1289C>A, p.(Ser430 *)) by candidate gene sequencing. Cephalometric analyses revealed the anterior open bite that occurred in the proband is not correlated with the AI in this family.",

keywords = "Anterior open bite, Crown resorption, FAM83H, Hereditary enamel defects, Hypocalcified, Tooth impaction",

author = "Camila Alvarez and Arag{\'o}n, {Mar{\'i}a Andrea} and Yejin Lee and Sandra Guti{\'e}rrez and Patricia M{\'e}ndez and Garc{\'i}a, {Dabeiba Adriana} and Liliana Otero and Kim, {Jung Wook}",

note = "Publisher Copyright: {\textcopyright} 2022 by the authors. Licensee MDPI, Basel, Switzerland.",

year = "2022",

month = mar,

doi = "10.3390/children9030362",

language = "English",

volume = "9",

journal = "Children",

issn = "2227-9067",

publisher = "Multidisciplinary Digital Publishing Institute (MDPI)",

number = "3",

}

TY - JOUR

T1 - A Recurrent FAM83H Mutation in an Extended Colombian Family and Variable Craniofacial Phenotypes

AU - Alvarez, Camila

AU - Aragón, María Andrea

AU - Lee, Yejin

AU - Gutiérrez, Sandra

AU - Méndez, Patricia

AU - García, Dabeiba Adriana

AU - Otero, Liliana

AU - Kim, Jung Wook

PY - 2022/3

Y1 - 2022/3

N2 - Amelogenesis imperfecta (AI) is a collection of rare genetic disorders affecting the quantity and/or quality of the tooth enamel. AI can be classified into three major types according to the clinical phenotype: hypoplastic, hypocalcified, and hypomatured. Among them, the hypocalcified type shows the weakest physical properties, leaving rough and discolored enamel surfaces after tooth eruption. To date, mutations in the FAM83H gene are responsible for the autosomal-dominant hypocalcified AI. In this study, we recruited a four-generation Colombian family with hypocalcified AI and identified a recurrent nonsense mutation in the FAM83H gene (NM_198488.5:c.1289C>A, p.(Ser430 *)) by candidate gene sequencing. Cephalometric analyses revealed the anterior open bite that occurred in the proband is not correlated with the AI in this family.

AB - Amelogenesis imperfecta (AI) is a collection of rare genetic disorders affecting the quantity and/or quality of the tooth enamel. AI can be classified into three major types according to the clinical phenotype: hypoplastic, hypocalcified, and hypomatured. Among them, the hypocalcified type shows the weakest physical properties, leaving rough and discolored enamel surfaces after tooth eruption. To date, mutations in the FAM83H gene are responsible for the autosomal-dominant hypocalcified AI. In this study, we recruited a four-generation Colombian family with hypocalcified AI and identified a recurrent nonsense mutation in the FAM83H gene (NM_198488.5:c.1289C>A, p.(Ser430 *)) by candidate gene sequencing. Cephalometric analyses revealed the anterior open bite that occurred in the proband is not correlated with the AI in this family.

KW - Anterior open bite

KW - Crown resorption

KW - FAM83H

KW - Hereditary enamel defects

KW - Hypocalcified

KW - Tooth impaction

UR - http://www.scopus.com/inward/record.url?scp=85126518465&partnerID=8YFLogxK

U2 - 10.3390/children9030362

DO - 10.3390/children9030362

M3 - Article

AN - SCOPUS:85126518465

SN - 2227-9067

VL - 9

JO - Children

JF - Children

IS - 3

M1 - 362

ER -

A Recurrent FAM83H Mutation in an Extended Colombian Family and Variable Craniofacial Phenotypes

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Cite this