在摩洛哥巴特综合征患者的BSND基因中鉴定出两个新的纯合错义突变。
Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome.
作者信息
Elrharchi Soukaina, Riahi Zied, Salime Sara, Nahili Halima, Rouba Hassan, Kabine Mostafa, Bonnet Crystel, Petit Christine, Barakat Abdelhamid
机构信息
Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco; Laboratoire de santé et environnement, Faculté des Sciences Ain Chock, Université Hassan II, Casablanca, Morocco.
INSERM UMRS1120, Institut de la Vision, Paris, France; UPMC-Sorbonnes Universités Paris VI, Paris, France.
出版信息
Int J Pediatr Otorhinolaryngol. 2018 Oct;113:46-50. doi: 10.1016/j.ijporl.2018.07.010. Epub 2018 Jul 10.
OBJECTIVES
Hearing loss (HL) is one of the most common sensorineural disorders. In the present study, we identified two novel missense mutations in BSND gene causing Bartter syndrome type IV which is a genetic disease with an autosomal recessive transmission, characterized by hypokalaemia, metabolic alkalosis, an elevation in plasma renin activity and hyperaldosteronism as well as sensorineural deafness.
METHODS
Whole-exome sequencing was performed to study the genetic causes of Hearing loss in two unrelated patients from two Moroccan families.
RESULTS
The two novel homozygous mutations p.Arg8Gly (c.22C > G), p.Thr36Asn (c.107C > A) in exon 1 of BSND gene which encodes barttin were identified in 7 patients belonging to two unrelated families originated from central region of Morocco.
CONCLUSION
We identified two novel missense mutations p.Arg8Gly and p.Thr36Asn in exon 1 of BSND gene; both mutations were described for the first time in Moroccan patients with Bartter syndrome type IV.
目的
听力损失（HL）是最常见的感音神经性疾病之一。在本研究中，我们在BSND基因中鉴定出两个新的错义突变，这两个突变导致IV型巴特综合征，该疾病是一种常染色体隐性遗传疾病，其特征为低钾血症、代谢性碱中毒、血浆肾素活性升高、醛固酮增多症以及感音神经性耳聋。
方法
对来自两个摩洛哥家庭的两名无亲缘关系的患者进行全外显子组测序，以研究听力损失的遗传原因。
结果
在来自摩洛哥中部地区的两个无亲缘关系家庭的7名患者中，鉴定出编码barttin的BSND基因第1外显子中的两个新的纯合突变p.Arg8Gly（c.22C > G）、p.Thr36Asn（c.107C > A）。
结论
我们在BSND基因第1外显子中鉴定出两个新的错义突变p.Arg8Gly和p.Thr36Asn；这两个突变在摩洛哥IV型巴特综合征患者中均为首次报道。
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