PMC5635853_01
Pedigree of the Israeli-Arab family presenting MCAHS1.
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F1
The proband (IV4 in Fig. 1) was born at term with normal birth weight of 3300 g.
Photographs of: A. the patient face at age of 1 year and 9 months. B. the patient face at age of 6 years and 4 months. C. the patient hand at age of 5 years and 2 months. [Color figure can be seen in the online version of this article, available at http://wileyonlinelibrary.com/journal/ajmga]
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F2
Clinical examination showed hypotonia and dysmorphic features "reminiscent of Down syndrome" (Fig. 2A,B). Clinical examination revealed some unusual findings, including, brachycephaly, flat face, up-slanting palpebral fissures, synophrys, squint, large cheeks, small nose and mouth, relatively small ears (4 cm, 2nd centile), hyperfolded and coarse helices, short neck, and dimples of elbows (Fig. 2A). Palms and fingers length were normal, but the fingers appeared tapering in shape with hypoplastic fingernails; the thumb appeared unusually sharp (Fig. 2C).
A. DNA sequence electropherograms of the c.755A>T mutation identified in exon 9 of PIGN in the patient, her brother, her two sisters, and her parents. B. Alignment of different PIGN amino acids sequences with human PIGN. The conserved aspartic acid at position 252 is shaded in gray. [Color figure can be seen in the online version of this article, available at http://wileyonlinelibrary.com/journal/ajmga]
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F3
One brother IV1 and one sister IV2 were homozygous for the wild-type allele (Fig. 3).
A. Gated granulocyte cells stained with mouse anti CD45. B. Surface expression of overall GPI-anchored proteins as revealed by FLAER expression on blood granulocytes. C-E. Expression of CD24, CD18 and CD16, respectively, on blood granulocytes. Dark shadow represents our patient, solid line represents normal controls.
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F4
GPI-anchored proteins on granulocytes were analyzed by flow cytometry. Granulocytes were gated after staining with mouse anti-CD45 PerCp to allow us to perform the FC analysis only on blood granulocytes (Fig. 4A). The overall expression of GPI-anchored proteins was significantly decreased to 53% of normal levels as revealed by FLAER expression on patient granulocytes (Fig. 4B). CD 24 and CD18 expression on granulocytes was decreased to 44% and 14% respectively (Fig. 4C, D). No abnormal expression of CD16 on granulocytes was observed (Fig. 4E).