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Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome.

Identifieur interne : 001E60 ( PubMed/Corpus ); précédent : 001E59; suivant : 001E61

Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome.

Auteurs : Patroula Smpokou ; Erica Tworog-Dube ; Raju S. Kucherlapati ; Amy E. Roberts

Source :

American journal of medical genetics. Part A [ 1552-4833 ] ; 2012.

RBID : pubmed:23165751

English descriptors

KwdEn :
- Adult, Cohort Studies, Cross-Sectional Studies (methods), Female, Genetic Association Studies (methods), Humans, Male, Massachusetts (epidemiology), Noonan Syndrome (complications), Noonan Syndrome (diagnosis), Noonan Syndrome (epidemiology), Noonan Syndrome (genetics), Prevalence.
MESH :
- geographic , epidemiology : Massachusetts.
- complications : Noonan Syndrome.
- diagnosis : Noonan Syndrome.
- epidemiology : Noonan Syndrome.
- genetics : Noonan Syndrome.
- methods : Cross-Sectional Studies, Genetic Association Studies.
- Adult, Cohort Studies, Female, Humans, Male, Prevalence.

Abstract

Noonan syndrome (NS) is a heterogeneous developmental disorder caused by missense mutations in genes involved in the Ras/MAPK signaling pathway, a major mediator of early and late developmental processes. The diagnosis of NS is made on clinical grounds with molecular confirmation of a mutation found in 63% of cases. Key clinical features include short stature, cardiac defects, developmental delay, lymphatic dysplasias, bleeding tendency, and a constellation of distinctive facial features and physical exam findings. The prevalence of medical issues or the development of new ones in adults with NS is not well-studied. This cross-sectional study reports on the prevalence of clinical conditions and their ages of onset in a cohort of 35 adolescents and adults with NS aged 16-68 years old (mean age 28 years). In this cohort, 34 of 35 subjects (97%) had had full PTPN11 sequencing; 37% were PTPN11 positive, 23% were SOS1 positive, and 3% were BRAF positive. Mean adult height in both men and women was at the 3rd-10th centile. The most prevalent clinical findings in this cohort included pulmonary valve stenosis (71%), easy bruising (63%), GERD (60%), constipation (51%), scoliosis (54%), chronic joint pain (54%), lymphedema (49%), depression (49%), anxiety (49%), Chiari malformation (20%), and osteopenia/osteoporosis (14%). In summary, adults with NS are affected by multi-organ morbidity and require special medical management aimed towards the most prevalent and serious known medical complications. Larger studies characterizing the clinical conditions found in NS adults are needed to provide potential genotype-phenotype correlations that may aid in clinical management.

DOI: 10.1002/ajmg.a.35639
PubMed: 23165751

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pubmed:23165751

Le document en format XML

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<author><name sortKey="Smpokou, Patroula" sort="Smpokou, Patroula" uniqKey="Smpokou P" first="Patroula" last="Smpokou">Patroula Smpokou</name>
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<author><name sortKey="Tworog Dube, Erica" sort="Tworog Dube, Erica" uniqKey="Tworog Dube E" first="Erica" last="Tworog-Dube">Erica Tworog-Dube</name>
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<author><name sortKey="Kucherlapati, Raju S" sort="Kucherlapati, Raju S" uniqKey="Kucherlapati R" first="Raju S" last="Kucherlapati">Raju S. Kucherlapati</name>
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<front><div type="abstract" xml:lang="en">Noonan syndrome (NS) is a heterogeneous developmental disorder caused by missense mutations in genes involved in the Ras/MAPK signaling pathway, a major mediator of early and late developmental processes. The diagnosis of NS is made on clinical grounds with molecular confirmation of a mutation found in 63% of cases. Key clinical features include short stature, cardiac defects, developmental delay, lymphatic dysplasias, bleeding tendency, and a constellation of distinctive facial features and physical exam findings. The prevalence of medical issues or the development of new ones in adults with NS is not well-studied. This cross-sectional study reports on the prevalence of clinical conditions and their ages of onset in a cohort of 35 adolescents and adults with NS aged 16-68 years old (mean age 28 years). In this cohort, 34 of 35 subjects (97%) had had full PTPN11 sequencing; 37% were PTPN11 positive, 23% were SOS1 positive, and 3% were BRAF positive. Mean adult height in both men and women was at the 3rd-10th centile. The most prevalent clinical findings in this cohort included pulmonary valve stenosis (71%), easy bruising (63%), GERD (60%), constipation (51%), scoliosis (54%), chronic joint pain (54%), lymphedema (49%), depression (49%), anxiety (49%), Chiari malformation (20%), and osteopenia/osteoporosis (14%). In summary, adults with NS are affected by multi-organ morbidity and require special medical management aimed towards the most prevalent and serious known medical complications. Larger studies characterizing the clinical conditions found in NS adults are needed to provide potential genotype-phenotype correlations that may aid in clinical management.</div>
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Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome.

Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome.

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

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