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Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings.

Abstract：

:Cartilage hair hypoplasia syndrome (OMIM # 250250) is a rare autosomal recessive metaphyseal dysplasia, characterized by disproportionate short stature, hair hypoplasia and variable extra-skeletal manifestations, including immunodeficiency, anemia, intestinal diseases and predisposition to cancers. Cartilage hair hypoplasia syndrome has a broad phenotype and it is caused by homozygous or compound heterozygous mutation in the mitochondrial RNA-processing endoribonuclease on chromosome 9p13. Although it is well known as a primordial dwarfism, descriptions of the prenatal growth are missing. To add further details to the knowledge of the phenotypic spectrum of the disease, we report on two siblings with cartilage hair hypoplasia syndrome, presenting n.64C > T homozygous mutation in the mitochondrial RNA-processing endoribonuclease gene. We describe the prenatal and postnatal growth pattern of the two affected patients, showing severe pre- and post-natal growth deficiency.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Lugli L,Ciancia S,Bertucci E,Lucaccioni L,Calabrese O,Madeo S,Berardi A,Iughetti L

doi

10.1016/j.ejmg.2021.104136

subject

Has Abstract

pub_date

2021-01-12 00:00:00

pages

104136

issue

2

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(21)00002-1

journal_volume

64

pub_type

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