Presentation of Pallister-Hall-Like Syndrome in a Girl with a Homozygous Rare Variant in the SMO Gene.

IF 0.9 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2025-05-01 Epub Date: 2024-10-15 DOI:10.1159/000541401

Mertcan Tan, Musa Turgut, Özmert Muhammed Ali Özdemir, Kadri Karaer

引用次数: 0

Abstract

Introduction: Pallister-Hall-Like Syndrome (PHLS) (OMIM #241800), a rare ciliopathy associated with defects in the Sonic Hedgehog pathway, is characterized by postaxial polydactyly, hypothalamic hamartoma, cardiac and skeletal anomalies, and craniofacial dysmorphisms.

Case report: This report describes a 3-day-old girl from a consanguineous family diagnosed with bilateral postaxial polydactyly and facial dysmorphism. Genetic analysis revealed a homozygous pathogenic c.1726 C>T; p.Arg576Trp variant in the SMO gene.

Conclusion: Consanguineous marriage causes predisposition to ultra-rare conditions. There have been eleven documented cases of this ultra-rare syndrome. To our knowledge, this is the first reported case in Turkiye, enriching our clinical understanding of PHLS.

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患有SMO基因纯合子罕见变异的女孩出现苍白-霍尔样综合征。

简介：Pallister-Hall-Like Syndrome (PHLS) （OMIM #241800）是一种罕见的与Sonic Hedgehog通路缺陷相关的纤毛病，其特征是轴后多指畸形、下丘脑错构瘤、心脏和骨骼异常以及颅面畸形。病例报告：本报告描述了一名来自近亲家庭的3天大女孩，被诊断为双侧轴后多指畸形和面部畸形。遗传分析显示为纯合子致病性c.1726C > T;p.Arg576Trp在SMO基因中的变异。结论：近亲婚姻会导致超罕见疾病的易感性。有11例记录在案的这种极其罕见的综合征。据我们所知，这是土耳其首次报道的病例，丰富了我们对PHLS的临床认识。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.