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Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.

ABSTRACT: BACKGROUND:Developmental dyslexia (DD) is a neurodevelopmental learning disorder with high heritability. A number of candidate susceptibility genes have been identified, some of which are linked to the function of the cilium, an organelle regulating left-right asymmetry development in the embryo. Furthermore, it has been suggested that disrupted left-right asymmetry of the brain may play a role in neurodevelopmental disorders such as DD. However, it is unknown whether there is a common genetic cause to DD and laterality defects or ciliopathies. CASE PRESENTATION:Here, we studied two individuals with co-occurring situs inversus (SI) and DD using whole genome sequencing to identify genetic variants of importance for DD and SI. Individual 1 had primary ciliary dyskinesia (PCD), a rare, autosomal recessive disorder with oto-sino-pulmonary phenotype and SI. We identified two rare nonsynonymous variants in the dynein axonemal heavy chain 5 gene (DNAH5): a previously reported variant c.7502G?>?C; p.(R2501P), and a novel variant c.12043?T?>?G; p.(Y4015D). Both variants are predicted to be damaging. Ultrastructural analysis of the cilia revealed a lack of outer dynein arms and normal inner dynein arms. MRI of the brain revealed no significant abnormalities. Individual 2 had non-syndromic SI and DD. In individual 2, one rare variant (c.9110A?>?G;p.(H3037R)) in the dynein axonemal heavy chain 11 gene (DNAH11), coding for another component of the outer dynein arm, was identified. CONCLUSIONS:We identified the likely genetic cause of SI and PCD in one individual, and a possibly significant heterozygosity in the other, both involving dynein genes. Given the present evidence, it is unclear if the identified variants also predispose to DD and further studies into the association between laterality, ciliopathies and DD are needed.

SUBMITTER: Bieder A

PROVIDER: S-EPMC7193346 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.

Bieder Andrea A Einarsdottir Elisabet E Matsson Hans H Nilsson Harriet E HE Eisfeldt Jesper J Dragomir Anca A Paucar Martin M Granberg Tobias T Li Tie-Qiang TQ Lindstrand Anna A Kere Juha J Tapia-Páez Isabel I

BMC medical genetics 20200501 1

<h4>Background</h4>Developmental dyslexia (DD) is a neurodevelopmental learning disorder with high heritability. A number of candidate susceptibility genes have been identified, some of which are linked to the function of the cilium, an organelle regulating left-right asymmetry development in the embryo. Furthermore, it has been suggested that disrupted left-right asymmetry of the brain may play a role in neurodevelopmental disorders such as DD. However, it is unknown whether there is a common g ...[more]

PMID: 32357925

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Project description:Background Situs inversus totalis is a rare congenital anomaly defined by a mirror-image of thoracic and abdominal viscera. Discrete cases of situs inversus totalis and its association with gastrointestinal tumors have been reported. Here we report the first case of pancreatic-head serous cystadenoma in patient with situs inversus totalis. Case presentation A 68-year-old woman presented with an abdominal mass that appeared four months ago. She was otherwise asymptomatic and her physical examination was unremarkable. Chest X-ray revealed dextrocardia. CT scan confirmed situs inversus totalis with an irregular, clear border, heterogenous pancreatic-head mass measuring 11 cm. Laboratory studies were within the reference range and pancreatic tumor markers were normal. We performed an elective open pancreaticoduodenectomy followed by an end-to-side pancreaticojejunostomy, an end-to-side choledochojenunostomy, and a side-to-side gastrojejunostomy. The immediate postoperative course was uneventful, and she was discharged four days later without any complications. Four-month of follow-ups revealed no recurrent or relapsed disease. Discussion Although the steps of the Whipple procedure are almost the same in SIT patients. The main differences during the operation in SIT patients are the anatomical variations and how the surgeon will cope with them to avoid any mistakes. Conclusion The surgeons should improve their skills and gain control in both hands to easily adjust with the anatomic variations of situs inversus totalis and reduce the operation time and the associated risk of long operation time. Highlights • Situs inversus totalis (SIT) is a rare congenital anomaly defined by a mirror-image of thoracic and abdominal viscera.• Pancreaticoduodenectomy is more demanding and challenging to perform in patients with situs inversus totalis.• Surgeons should have a complete state of focus and take extreme care at each step during the operation.• Surgeons should improve their skills and gain control in both hands to adjust with the anatomic variations of SIT.

Dataset Information

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.

Publications

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.

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