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. Author manuscript; available in PMC: 2014 Oct 2.
Published in final edited form as: Am J Med Genet A. 2010 Apr;0(4):807–814. doi: 10.1002/ajmg.a.33342

Table 1.

Clinical presentation of family member study participants.

Pedigree Number V-2 IV-8 IV-9 V-1 V-3 III-6 II-2 III-2 III-3 III-4 III-5 IV-5 IV-6
Relationship proband mother father Half brother Full brother Mat GM Mat GGM Mat GU Mat GA Mat GA Mat GU First cousin once removed First cousin once removed
Age at evaluation 7 ½ mo 27 yrs 26 yrs 7 yrs 8 mo 42 yrs 78 yrs unknown 58 yrs unknown Died 41 yrs 18 yrs 14 yrs
Sex M F M M M F F M F F M F M
MEK2 mutation P128Q P128Q No mutation P128Q Not tested P128Q P128Q Not tested P128Q No mutation Not tested P128Q P128Q
Neurocognition a N/A LD normal ADHD/LD N/A LD LD LD Tics - LD LD LD
Short stature - + - - - + + + unknown unknown unknown - -
Distinctive facies b + + - + + + + + + - + + +
Cardiac abnormality Pulmonic Stenosis Pulmonic Stenosis - - Pulmonic Stenosis - - - - - - - -
Ectodermal anomalies c + + - + + + + + + - + + +
 sparse curly hair + + - + + + + + + - + + +
 sparse/lack of eyebrow + + - + + + + + + - + + +
 keratosis pilaris + - - + + - - unknown - - unknown + +
 hemangiomas + + - - - - - unknown - - unknown - -
 CALM - + - + + - - unknown - - unknown - -
 nevi - 2 - - - - - unknown - - unknown - -
Pectus excavatum - - - + - - - unknown - - unknown - -
Ocular abnormality d - + - + - + + + + - + + +
Inguinal hernia - - - + - - - - - - - - -
Pyloric stenosis + - - + - - - - - - - - -
Minor penoscrotal inversion + N/A - + + N/A N/A unknown N/A N/A unknown N/A +
Other Double cervix Menopause age 40 infertile
Dermatoglyphics e low TRC unknown unknown low TRC, CPL4F unknown t”/t t”/t unknown tt”/tt”’ unknown unknown tt”/t” t’/t’
Cancer - - - - - - Breast age 70 - - - ALL - -
a

Neurocognition includes learning disability (LD) requiring special education, attention deficient hyperactivity disorder (ADHD), neuromuscular tics or not applicable (N/A) due to young age.

b

Characteristic facies may include relative macrocephaly, prominent forehead, bitemporal narrowing, shallow orbital ridges, down-slanting palpebral fissures, ptosis, epicanthal folds, telecanthus, hypertelorism, short nose with a depressed nasal bridge and low-set, posteriorly rotated ears.

c

Ectodermal anomalies may include sparse, curly and/or friable hair, scant eyebrows and eyelashes, keratosis pilaris and/or ulerythema ophryogenes, nevi and/or hemangiomas.

d

Ophthalmologic abnormalities may include strabismus, myopia and /or hyperopia.

e

Abbreviations include: Total Ridge Count (TRC), Central Pocket Loop in 4th Finger (CPL4F)