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Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations
Author(s) -
BarrazaGarcía Jimena,
Iván RiveraPedroza Carlos,
Salamanca Luis,
Belinchón Alberta,
LópezGonzález Vanesa,
SentchordiMontané Lucía,
del Pozo Ángela,
SantosSimarro Fernando,
CamposBarros Ángel,
Lapunzina Pablo,
GuillénNavarro Encarna,
GonzálezCasado Isabel,
GarcíaMiñaur Sixto,
Heath Karen E.
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37393
Subject(s) - dwarfism , short stature , achondroplasia , dysplasia , biology , endocrinology , anatomy , medicine , genetics , gene
Primordial dwarfism encompasses rare conditions characterized by severe intrauterine growth retardation and growth deficiency throughout life. Recently, three POC1A mutations have been reported in six families with the primordial dwarfism, SOFT syndrome (Short stature, Onychodysplasia, Facial dysmorphism, and hypoTrichosis). Using a custom‐designed Next‐generation sequencing skeletal dysplasia panel, we have identified two novel homozygous POC1A mutations in two individuals with primordial dwarfism. The severe growth retardation and the facial profiles are strikingly similar between our patients and those described previously. However, one of our patients was diagnosed with severe foramen magnum stenosis and subglottic tracheal stenosis, malformations not previously associated with this syndrome. Our findings confirm that POC1A mutations cause SOFT syndrome and that mutations in this gene should be considered in patients with severe pre‐ and postnatal short stature, symmetric shortening of long bones, triangular facies, sparse hair and short, thickened distal phalanges. © 2015 Wiley Periodicals, Inc.