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HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
Clinical Genetics ( IF 2.9 ) Pub Date : 2020-04-26 , DOI: 10.1111/cge.13765 Sara C Reichert 1 , Rachel Li 1 , Scott A Turner 2 , Richard H van Jaarsveld 3 , Maarten P G Massink 3 , Marie-José H van den Boogaard 3 , Mireia Del Toro 4 , Agustí Rodríguez-Palmero 5 , Stéphane Fourcade 5, 6 , Agatha Schlüter 5, 6 , Laura Planas-Serra 5, 6 , Aurora Pujol 5, 6, 7 , Maria Iascone 8 , Silvia Maitz 9 , Lucy Loong 10 , Helen Stewart 10 , Elisa De Franco 11 , Sian Ellard 12 , Julie Frank 13 , Raymond Lewandowski 1
Clinical Genetics ( IF 2.9 ) Pub Date : 2020-04-26 , DOI: 10.1111/cge.13765 Sara C Reichert 1 , Rachel Li 1 , Scott A Turner 2 , Richard H van Jaarsveld 3 , Maarten P G Massink 3 , Marie-José H van den Boogaard 3 , Mireia Del Toro 4 , Agustí Rodríguez-Palmero 5 , Stéphane Fourcade 5, 6 , Agatha Schlüter 5, 6 , Laura Planas-Serra 5, 6 , Aurora Pujol 5, 6, 7 , Maria Iascone 8 , Silvia Maitz 9 , Lucy Loong 10 , Helen Stewart 10 , Elisa De Franco 11 , Sian Ellard 12 , Julie Frank 13 , Raymond Lewandowski 1
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Pathogenic variants in HNRNPH1 were first reported in 2018. The reported individual, a 13 year old boy with a c.616C>T (p.R206W) variant in the HNRNPH1 gene, was noted to have overlapping symptoms with those observed in HNRNPH2‐ related X‐linked intellectual disability, Bain type (MRXSB), specifically intellectual disability and dysmorphic features. While HNRNPH1 variants were initially proposed to represent an autosomal cause of MRXSB, we report an additional seven cases which identify phenotypic differences from MRXSB. Patients with HNRNPH1 pathogenic variants diagnosed via WES were identified using clinical networks and GeneMatcher. Features unique to individuals with HNRNPH1 variants include distinctive dysmorphic facial features; an increased incidence of congenital anomalies including cranial and brain abnormalities, genitourinary malformations, and palate abnormalities; increased incidence of ophthalmologic abnormalities; and a decreased incidence of epilepsy and cardiac defects compared to those with MRXSB. This suggests that pathogenic variants in HNRNPH1 result in a related, but distinct syndromic cause of intellectual disability from MRXSB, which we refer to as HNRNPH1 ‐related syndromic intellectual disability.
中文翻译：
HNRNPH1相关的综合征性智力残疾：另有7个病例提示了明显的综合征性神经发育综合征。
HNRNPH1的致病性变异于2018年首次报道。报告的个体是一个13岁的男孩，其HNRNPH1基因具有c.616C> T（p.R206W）变异，据悉与HNRNPH2相关的症状具有重叠的症状。X连锁的智力障碍，贝恩型（MRXSB），特别是智力障碍和畸形特征。虽然最初提出了HNRNPH1变体来代表MRXSB的常染色体原因，但我们报告了另外7个病例，这些病例鉴定出与MRXSB的表型差异。使用临床网络和GeneMatcher鉴定通过WES诊断出的HNRNPH1病原体变异的患者。具有HNRNPH1个人独有的功能变体包括明显的畸形面部特征；先天性异常的发生率增加，包括颅脑异常，泌尿生殖系统畸形和上颚异常；眼科异常的发生率增加；与MRXSB相比，癫痫和心脏缺陷的发生率降低。这表明HNRNPH1中的致病性变异导致了与MRXSB智力障碍相关但不同的综合征原因，我们将其称为HNRNPH1相关综合征智力障碍。
更新日期：2020-04-26
中文翻译：
HNRNPH1相关的综合征性智力残疾：另有7个病例提示了明显的综合征性神经发育综合征。
HNRNPH1的致病性变异于2018年首次报道。报告的个体是一个13岁的男孩，其HNRNPH1基因具有c.616C> T（p.R206W）变异，据悉与HNRNPH2相关的症状具有重叠的症状。X连锁的智力障碍，贝恩型（MRXSB），特别是智力障碍和畸形特征。虽然最初提出了HNRNPH1变体来代表MRXSB的常染色体原因，但我们报告了另外7个病例，这些病例鉴定出与MRXSB的表型差异。使用临床网络和GeneMatcher鉴定通过WES诊断出的HNRNPH1病原体变异的患者。具有HNRNPH1个人独有的功能变体包括明显的畸形面部特征；先天性异常的发生率增加，包括颅脑异常，泌尿生殖系统畸形和上颚异常；眼科异常的发生率增加；与MRXSB相比，癫痫和心脏缺陷的发生率降低。这表明HNRNPH1中的致病性变异导致了与MRXSB智力障碍相关但不同的综合征原因，我们将其称为HNRNPH1相关综合征智力障碍。
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