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. 2022 May 26;139(21):3111–3126. doi: 10.1182/blood.2021011846

Table 1.

The clinical features of the individuals in this study

Feature P1 P2 P3 P4 P5 P6
Clinical findings
 Age at last visit Died at age 20 y 10 y 17 y 11 y 9 y 5 y
 Sex Female Male Male Male Female Male
 Ethnicity Turkish Turkish Turkish French Dutch Dutch
 Country The Netherlands The Netherlands Turkey France The Netherlands The Netherlands
 Family A A B C D D
 Variant in HEATR3  (ENST00000299192) c.1751G>A p.(Gly584Glu) homozygous c.1751G>A p.(Gly584Glu) homozygous c.1337G>A p.(Cys446Tyr) homozygous c.399 + 1G>T p.? heterozygous and c.719C> T p.(Pro240Leu) heterozygous c.400T>C p.(Cys134Arg) homozygous c.400T>C p.(Cys134Arg) homozygous
Systemic findings
 Hematologic findings  at presentation Anemia Anemia Anemia Anemia Anemia Anemia and thrombocytopenia
 Body mass index  (normal 18.5-24.9  kg/m2) 29 kg/m2 23.7 kg/m2 28.1 kg/m2 18.7 kg/m2 22.8 kg/m2 16.3 kg/m2
 Height < –3 SD < –1 SD < –4 SD < –1 SD (growth hormone therapy at 4 y, < –3 SD at 2 mo) < –1 SD 0 SD
 Head circumference NA Normal (0 SD) < –3 SD NA > +1 SD >+1 SD
 Skeletal findings Brachydactyly of hands, distal tapering of fingers, pes planus, hallux valgus Pes planus, hallux valgus of the left foot, bilateral hypoplasia of the fourth and fifth toes Severe genu valgum (operated), pes planus, brachydactyly of hands, hypoplasia of toes, sandal gap, cubitis valgus None Congenital hip dysplasia, preaxial polydactyly of right hand (operated), clinodactyly of left thumb, brachydactyly of first metacarpals, distal tapering of fingers Brachydactyly of hands
 Intellectual disability/  developmental  delay Mild Mild Mild None Mild None
 Facial dysmorphism Synophrys, hypertelorism, low-set ears Coarse hair, straight eyebrows, synophrys, protruding ears, full cheeks, narrow mouth Down-slanted palpebral fissures, mild ptosis of left eye, widow's peak, micrognathy, protruding ears None Straight eyebrows Down-slanted palpebral fissures, low-set ears
 Skin findings None Cutis marmorata Multiple nevi, facial freckling Multiple nevi None None
 Echocardiogram NA NA Aortic regurgitation, dysplastic aortic valves Interatrial septal defect (ostium secundum) Normal NA
 Gastrointestinal  findings None None None Persistent diarrhea, colitis None None
 Other findings Obesity, PCOS, hypotonia Truncal obesity, ENT problems Truncal obesity None Obesity None
 History of RBC  transfusion Yes No Yes Yes Yes Transient
 Response to  corticosteroid No NA Yes No NA NA
 Current treatment None Corticosteroid Transfusion and iron chelation Transfusion and iron chelation None
 Clinical course Died of osteosarcoma at age 20 y Currently in good clinical condition Currently in good clinical condition Currently in good clinical condition Currently in good clinical condition Currently in good clinical condition
Family history
 Consanguinity First-degree cousins First-degree cousins First-degree cousins No Likely Likely
 Family history Yes, sibling (P1) Yes, sibling (P2) Yes, sibling None Yes, sibling (P6) Yes, sibling (P5)

ENT, ears, nose, throat; NA, not available; PCOS, polycystic ovarian syndrome; RBC, red blood cell; SD, standard deviation.