Dataset Information

A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.

ABSTRACT: We investigated the cause of situs inversus totalis (SIT) in two siblings from a consanguineous family. Genotyping and whole-exome analysis revealed a homozygous change in NME7, resulting in deletion of an exon causing an in-frame deletion of 34 amino acids located in the second NDK domain of the protein and segregated with the defective lateralization in the family. NME7 is an important developmental gene, and NME7 protein is a component of the ?-tubulin ring complex. This mutation is predicted to affect the interaction of NME7 protein with this complex as it deletes the amino acids crucial for the binding. SIT associated with homozygous deletion in our patients is in line with Nme7(-/-) mutant mice phenotypes consisting of congenital hydrocephalus and SIT, indicating a novel human laterality patterning role for NME7. Further cases are required to elaborate the full human phenotype associated with NME7 mutations.

SUBMITTER: Reish O

PROVIDER: S-EPMC6066188 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature

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A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.

Reish Orit O Aspit Liam L Zouella Arielle A Roth Yehudah Y Polak-Charcon Sylvie S Baboushkin Tatiana T Benyamini Lilach L Scheetz Todd E TE Mussaffi Huda H Sheffield Val C VC Parvari Ruti R

Human mutation 20160509 8

We investigated the cause of situs inversus totalis (SIT) in two siblings from a consanguineous family. Genotyping and whole-exome analysis revealed a homozygous change in NME7, resulting in deletion of an exon causing an in-frame deletion of 34 amino acids located in the second NDK domain of the protein and segregated with the defective lateralization in the family. NME7 is an important developmental gene, and NME7 protein is a component of the γ-tubulin ring complex. This mutation is predicted ...[more]

PMID: 27060491

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Project description:BackgroundSitus inversus totalis (SIT) is an uncommon disorder characterized by mirror-image anatomy, which can present unique challenges and potential vascular anomalies in surgical interventions, particularly in gastric cancer patients.AimsWe aim to delineate a rare case of gastric adenocarcinoma in a SIT patient and conduct a thorough review of the existing literature concerning surgical strategies, vascular anomalies, and outcomes observed across varied geographic locales and technological approaches.MethodsA thorough examination of a case involving a 39-year-old male SIT patient who underwent a successful distal gastrectomy with D2 lymph node dissection is presented alongside an expansive literature review. The review encompasses 47 articles, collating data on surgical approaches and vascular anomalies across 49 patients diagnosed with SIT and gastric cancer.ResultsThe patient underwent curative distal gastrectomy and Billroth II with Braun anastomosis within 95 minutes, incurring minimal intraoperative blood loss (100ml). Postoperative pathology confirmed moderately to poorly differentiated gastric adenocarcinoma (pT3N0M0), with no signs of recurrence or metastasis after 6 months of S-1 adjuvant chemotherapy. The literature review revealed vascular anomalies in approximately 20% of reported cases, accentuating its surgical significance. Noteworthy variations in surgical strategies, operative times, blood loss, and complications across different surgical modalities were observed, providing a comprehensive view into the practical management of such cases.ConclusionDespite the inherent challenges associated with SIT, various surgical techniques can be successfully applied with meticulous preoperative planning and understanding vascular anomalies. This compilation of diverse surgical experiences across numerous documented cases seeks to provide a consolidated resource for refining surgical strategies and enhancing postoperative outcomes for gastric cancer patients with SIT, underscoring the imperativeness of further research in this niche domain.

Dataset Information

A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.

Publications

A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.

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