A Novel Deletion Mutation in Proteoglycan-4 Underlies Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome in a Consanguineous Pakistani Family

2011 ◽  
Vol 42 (2) ◽  
pp. 110-114 ◽  
Author(s):  
Sulman Basit ◽  
Zafar Iqbal ◽  
Masha Umicevic-Mirkov ◽  
Syed Kamran Ul-Hassan Naqvi ◽  
Marieke Coenen ◽  
...  
Keyword(s):  
Deletion Mutation ◽  
Coxa Vara ◽  
Pakistani Family ◽  
Proteoglycan 4

scholarly journals A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability

2011 ◽  
Vol 12 (1) ◽  
Author(s):  
Muzammil Ahmad Khan ◽  
Muhammad Arshad Rafiq ◽  
Abdul Noor ◽  
Nadir Ali ◽  
Ghazanfar Ali ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Autosomal Recessive ◽  
Deletion Mutation ◽  
Pakistani Family

CACP: eine seltene Differenzialdiagnose der juvenilen idiopathischen Arthritis

2021 ◽  
Vol 41 (06) ◽  
pp. 408-414
Author(s):  
Anthony Sprengel ◽  
Johannes-Peter Haas
Keyword(s):  
Coxa Vara ◽  
Genetische Diagnostik ◽  
Seltene Erkrankung ◽  
Klinische Symptome ◽  
Proteoglycan 4 ◽  
Kardiale Beteiligung

ZusammenfassungDas Kampodaktylie-Arthropathie-Coxa-vara-Perikarditis (CACP) -Syndrom ist eine seltene, autosomal-rezessive Erkrankung, die auf Mutationen im Proteoglycan-4-Gen zurückzuführen ist (OMIM #208250). Im Krankheitsverlauf steht eine progrediente, nicht inflammatorische Arthropathie im Vordergrund, wobei manche Patienten eine kardiale Beteiligung entwickeln. Berichtet wird über einen 3½-jährigen Jungen und ein 6-jähriges Mädchen, die unter der Diagnose einer therapieresistenten Rheumafaktor-negativen Polyarthritis mit intensiver antirheumatischer Behandlung erstmals im Deutschen Zentrum für Kinder- und Jugendrheumatologie vorgestellt wurden. Beide Patienten wiesen typische klinische Symptome eines CACP auf. Anhand anamnestischer Hinweise und einzelner diagnostischer Schritte konnte diese seltene Erkrankung zunächst eingegrenzt und in einem weiteren Schritt durch eine genetische Diagnostik bei beiden Kindern belegt werden.

scholarly journals In silico characterization of a novel pathogenic deletion mutation identified in XPA gene in a Pakistani family with severe xeroderma pigmentosum

2013 ◽  
Vol 20 (1) ◽  
pp. 70 ◽  
Author(s):  
Muhammad Nasir ◽  
Nafees Ahmad ◽  
Christian MK Sieber ◽  
Amir Latif ◽  
Salman Malik ◽  
...  
Keyword(s):  
In Silico ◽  
Xeroderma Pigmentosum ◽  
Deletion Mutation ◽  
Pakistani Family ◽  
In Silico Characterization

scholarly journals Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family

2013 ◽  
Vol 8 (1) ◽  
Author(s):  
Obaid Ur Rahman ◽  
Nadeem Khawar ◽  
Muhammad Aman Khan ◽  
Jawad Ahmed ◽  
Kamran Khattak ◽  
...  
Keyword(s):  
Deletion Mutation ◽  
Pakistani Family ◽  
Congenital Generalized Lipodystrophy

scholarly journals A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly

2006 ◽  
Vol 51 (9) ◽  
pp. 760-764 ◽  
Author(s):  
Asma Gul ◽  
Muhammad Jawad Hassan ◽  
Sabir Hussain ◽  
Syed Irfan Raza ◽  
Muhammad Salman Chishti ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Deletion Mutation ◽  
Pakistani Family ◽  
Primary Microcephaly ◽  
Autosomal Recessive Primary Microcephaly

scholarly journals Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome: Important Differential for Juvenile Idiopathic Arthritis

2013 ◽  
Vol 3 ◽  
pp. 24 ◽  
Author(s):  
Ritu Manoj Kakkar ◽  
Sameer Soneji ◽  
Rashmi R. Badhe ◽  
Shrinivas B. Desai
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Pericardial Effusion ◽  
Early Onset ◽  
Chromosome Band ◽  
Coxa Vara ◽  
Childhood Onset ◽  
Causative Gene ◽  
Histological Features ◽  
Inflammatory Arthropathy ◽  
Proteoglycan 4

Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is an inherited disorder characterized by congenital or early-onset flexion camptodactyly, childhood-onset of non-inflammatory arthropathy, often associated with non-inflammatory pericarditis or pericardial effusion and progressive coxa vara. The causative gene is located on chromosome band 1q25-31. This gene encodes for “proteoglycan-4” (PRG-4), which is a surface lubricant for joints and tendons. This syndrome has distinct radiological and histological features, which are important to recognize since it may clinically mimic juvenile idiopathic arthritis and mutation studies may not be easily available. We describe a case of a 3-year 3-month-old female with features of CACP syndrome.

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