3M Syndrome: An Easily Recognizable yet Underdiagnosed Cause of
Proportionate Short Stature
Al-Dosari, MS [ 2 ]; Al-Shammari, M [ 3,4 ]; Shaheen, R ; Faqeih, E [ 5 ]; AlGhofely, MA [ 5 ];
Boukai, A [ 6,3 ]; Alkuraya, FS [ 1,3,4,7 ]
JOURNAL OF PEDIATRICS
Volume: 161, Issue: 1, Pages: 139-+, DOI: 10.1016/j.jpeds.2011.12.051, Published: JUL
2012
Publisher MOSBY-ELSEVIER, 360 PARK AVENUE SOUTH, NEW YORK, NY
10010-1710 USA
ISSN: 0022-3476
Abstract
Objective To characterize, via clinical and molecul criteria, a cohort of patients with 3M
syndrome and thereby increase awareness of this syndrome as a recognizable cause of
proportionate short stature.
Study design We conducted a case series of patients referred to clinical genetics for
proportionate short stature. CUL7, OBSL1, and CCDC8 genes were clinically phenotyped
and sequenced.
Results In 6 Saudi families with 3M syndrome, we identified three CUL7, one OBSL1, and
one CCDC8 novel mutations, which we show result in a remarkably similar clinical
phenotype. Despite their typical and easily discernible clinical phenotype, all these
patients have been extensively investigated for alternative causes of their short stature
and received erroneous diagnoses.
Conclusion Increased awareness about this syndrome among pediatricians and
endocrinologists is needed to avoid a costly and unnecessary diagnostic odyssey. (J
Pediatr 2012;square:square-square).
Keywords
KeyWords Plus:MEIER-GORLIN SYNDROME; DEVELOPMENTAL DISORDER;
UBIQUITIN LIGASE; U4ATAC SNRNA; 3-M SYNDROME; MUTATIONS; CUL7;
COMPLEX; GROWTH; OBSCURIN-LIKE-1
Author Information
Reprint Address: Alkuraya, FS E-mail Addresses:falkuraya@kfshrc.edu.sa
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Dev Genet Unit, MBC 03,POB 3354,
Riyadh 11211, Saudi Arabia.
Organization-Enhanced Name(s)
King Faisal Specialist Hospital & Research Center
King Faisal Specialist Hospital & Research Center - Riyadh
Addresses:
[ 1 ] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Dev Genet Unit, Riyadh 11211,
Saudi Arabia
Organization-Enhanced Name(s)
King Faisal Specialist Hospital & Research Center
King Faisal Specialist Hospital & Research Center - Riyadh
[ 2 ] King Saud Univ, Coll Pharm, Dept Pharmaconosy, Riyadh, Saudi Arabia
Organization-Enhanced Name(s)
King Saud University
[ 3 ] King Saud Univ, Coll Med, Riyadh 11461, Saudi Arabia
Organization-Enhanced Name(s)
King Saud University
[ 4 ] King Saud Univ, Dept Pediat, King Khalid Univ Hosp, Riyadh, Saudi Arabia
Organization-Enhanced Name(s)
King Khalid University Hospital
King Saud University
[ 5 ] Suleimania Childrens Hosp, Riyadh 11525, Saudi Arabia
Organization-Enhanced Name(s)
Sulaimaniyah Children's Hospital
[ 6 ] King Saud Univ, Dept Radiol, King Khalid Univ Hosp, Riyadh, Saudi Arabia
Organization-Enhanced Name(s)
King Khalid University Hospital
King Saud University
[ 7 ] Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia
Organization-Enhanced Name(s)
Alfaisal University