Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G

被引：9

作者：

Al-Qattan, Mohammad M. ^{[1
,2
]}

Hadadi, Ali ^{[3
]}

Al-Thunayan, Abdullah M. ^{[2
]}

Eldali, Ahmed A. ^{[2
]}

AlBalwi, Mohammed A. ^{[3
,4
,5
]}

机构：

[1] King Saud Univ, Div Plast Surg, Riyadh, Saudi Arabia

[2] Minist Natl Guard Hlth Affairs, King Abdulaziz Med City, Div Plast Surg, Riyadh, Saudi Arabia

[3] King Saud bin Abdulaziz Univ Hlth Sci, Coll Med, Riyadh, Saudi Arabia

[4] Minist Natl Guard Hlth Affairs, King Abdulaziz Med City, Dept Pathol & Lab Med, MC1122,POB 22490, Riyadh 11426, Saudi Arabia

[5] Minist Natl Guard Hlth Affairs, Dept Med Genom Res, King Abdullah Int Med Res Ctr, Riyadh, Saudi Arabia

来源：

BMC MEDICAL GENETICS | 2018年 / 19卷

关键词：

Muscle; Overgrowth; PIK3CA; Somatic mutation; hypoplasia; PROTEUS SYNDROME; UPPER EXTREMITY; AKT1; MUTATIONS; SPECTRUM PROS; HYPERTROPHY; HAND; ASSOCIATION; HYPERPLASIA; LIPOMATOSIS; GENE;

D O I：

10.1186/s12881-018-0672-z

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Background: Scientists have previously described an overgrowth syndrome in Saudi patients and named it 'Upper limb muscle overgrowth with hypoplasia of the index finger' syndrome. Case presentation: We describe a new case and document that the syndrome is caused by the somatic PIK3CA mutation c.3140A>G, p.His1047Arg. We also recruited one of the previously reported cases and found the same somatic mutation in the affected muscles. A wider classification of 'PIK3CA-related pathology spectrum' is presented which includes cancer, benign skin lesions/tumors, Cowden syndrome, isolated vascular malformations and various overgrowth syndromes. The latter entity is sub-divided into 3 sub-groups: overgrowth with brain involvement, overgrowth with multiple lipomatosis, and overgrowth without brain involvement/multiple lipomatosis. Conclusion: Our literature review indicated that "upper limb muscle overgrowth with hypoplasia of the index finger" is not as rare as previously thought to be. This overgrowth syndrome is unique and is caused by the somatic PIK3CA mutation c.3140A>G.

引用

页数：7

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Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A&gt;G

Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G