Abstract：
Of the many types of mitochondrial diseases, mutations affecting BCS1L gene are regarded as chief cause of the defective mitochondrial complex-III, affecting normal mitochondrial functioning, and leading to wide variety of phenotypes.
In this case report we describe a novel genotype linked to a unique phenotype in a Saudi patient born of a consanguineous marriage. Detailed genetic analysis and whole genome sequencing identified a novel homozygous missense mutation in exon 5 c.712A > G (p.Ser328Gly) of the BCS1L gene, with predicted deleterious effects on the functioning AAA+-ATPase domain of the protein characterized by distinct clinical presentation associated with profound multisystem involvement, conductive hearing loss, absent external auditory canal, low posterior hair line, short neck, micro and retrognathia, over riding fingers, rocker bottom foot, small phallus with bilateral absent testis (empty scrotum) and intolerable lactic acidosis.
A pathogenic effect of this novel BCS1L mutation was reflected in the patient with his failure to thrive and a complex clinical and metabolic phenotype.
In this case report we describe a novel genotype linked to a unique phenotype in a Saudi patient born of a consanguineous marriage. Detailed genetic analysis and whole genome sequencing identified a novel homozygous missense mutation in exon 5 c.712A > G (p.Ser328Gly) of the BCS1L gene, with predicted deleterious effects on the functioning AAA+-ATPase domain of the protein characterized by distinct clinical presentation associated with profound multisystem involvement, conductive hearing loss, absent external auditory canal, low posterior hair line, short neck, micro and retrognathia, over riding fingers, rocker bottom foot, small phallus with bilateral absent testis (empty scrotum) and intolerable lactic acidosis.
A pathogenic effect of this novel BCS1L mutation was reflected in the patient with his failure to thrive and a complex clinical and metabolic phenotype.
摘要：
在许多类型的线粒体疾病中，影响BCS1L基因的突变被认为是线粒体复合物-III缺陷的主要原因，影响正常的线粒体功能，并导致各种各样的表型。
在这个病例报告中，我们描述了一个新的基因型，该基因型与一个出生在近亲婚姻中的沙特患者的独特表型有关。详细的遗传分析和全基因组测序在外显子5c.711A>G中鉴定出一种新的纯合错义突变（p。BCS1L基因的Ser328Gly），具有对蛋白质的功能AAA-ATPase结构域的预测有害影响，其特征是与严重的多系统参与相关的独特临床表现，传导性听力损失,外耳道缺失，后发线低,短脖子,微型和回颌,骑在手指上，摇杆底脚,小阴茎，双侧睾丸缺失（阴囊空）和无法忍受的乳酸性酸中毒。
这种新的BCS1L突变的致病作用反映在患者中，他未能茁壮成长和复杂的临床和代谢表型。
在这个病例报告中，我们描述了一个新的基因型，该基因型与一个出生在近亲婚姻中的沙特患者的独特表型有关。详细的遗传分析和全基因组测序在外显子5c.711A>G中鉴定出一种新的纯合错义突变（p。BCS1L基因的Ser328Gly），具有对蛋白质的功能AAA-ATPase结构域的预测有害影响，其特征是与严重的多系统参与相关的独特临床表现，传导性听力损失,外耳道缺失，后发线低,短脖子,微型和回颌,骑在手指上，摇杆底脚,小阴茎，双侧睾丸缺失（阴囊空）和无法忍受的乳酸性酸中毒。
这种新的BCS1L突变的致病作用反映在患者中，他未能茁壮成长和复杂的临床和代谢表型。
