A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients

Adila Al-Kindi, Maryam Al-Shehhi, Ana Westenberger, Christian Beetz, Patrick Scott, Oliver Brandau, Lia Abbasi-Moheb, Zafer Yüksel, Peter Bauer, Arndt Rolfs, Nana Maria Grüning*

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةمراجعة النظراء

5 اقتباسات (Scopus)

ملخص

Biallelic pathogenic variants in POC1A are ultra rare. They have been reported in 13 families as causing either Short stature, Onychodysplasia, Facial dysmorphism, and hypoTrichosis (SOFT) syndrome, or a milder partially overlapping phenotype, variant POC1A-related syndrome. This pleiotropic effect is likely precipitated by the variant’s location and respective affected protein domain. Here, we describe seven patients from two consanguineous Omani families with classic SOFT syndrome and a novel homozygous POC1A variant (c.64G>T; p.(Val22Phe)), which is the first one described for the alternative exon 2. This result refines the POC1A mutational spectrum relevant for exertion of the described pleiotropic effect. Furthermore, six of our patients experienced recurrent mild to severe respiratory difficulties that have not been previously reported for SOFT syndrome and may be an underdiagnosed or a genotype-specific complication that warrants attention in future studies. Thus, our study unravels new aspects of the genotype-phenotype correlation suggested by previous reports.

اللغة الأصليةEnglish
الصفحات (من إلى)193-197
عدد الصفحات5
دوريةJournal of Human Genetics
مستوى الصوت65
رقم الإصدار2
المعرِّفات الرقمية للأشياء
حالة النشرPublished - يناير 1 2020
منشور خارجيًانعم

ASJC Scopus subject areas

  • ???subjectarea.asjc.1300.1311???
  • ???subjectarea.asjc.2700.2716???

بصمة

أدرس بدقة موضوعات البحث “A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients'. فهما يشكلان معًا بصمة فريدة.

قم بذكر هذا