Table 1.
Clinical presentation of patients displaying UPD16
| Clinical Information | Patient | |||
|---|---|---|---|---|
| FA1 | FA2 | FA3 | FA4 | |
| Gender | F | M | M | F |
| Gene | FANCA | FANCA | FANCA | FANCP/SLX4 |
| Mutation (genomic)* | g.89833604delG | g.89811471–89811473delCCA | g.89867339–89876628del | g.3647798C>T |
| Mutation (cDNA) | c.2546delC | c.3520_3522delTGG | c.523_792del (Δexons 6–8) | c.1366G>A |
| Mutation (Protein**) | p.S849FfsX40 | p.W1174del | p.S175_Q264del | p.E456SfsX34, not expressed |
| Mutation (Zygosity) | Homozygous | Homozygous | Homozygous | Homozygous |
| Mother is carrier | No | Yes | Yes | Yes |
| Father is carrier | Yes | No | No | No |
| Ethnicity | Asian (Korean) | Caucasian | Caucasian | Caucasian |
| Consanguinity | No | No | No | No |
| Age at Diagnosis | 9 yrs. | 16 yrs. | 10 yrs. | 2 yrs. |
| BMF | 14 yrs. | 16 yrs. | 10 yrs. | Birth |
| BMT | No | 26 yrs. | 10 yrs. | 5 yrs. |
| Status | Deceased at 27yrs. | Deceased at 26 yrs. Complications of BMT | Alive and well at 22 years | Deceased at 5 yrs. Complications of BMT |
| Skin | Café-au-lait spots | Normal | Normal | Café-au-lait spots |
| Musculoskeletal | Hypoplastic thenar eminence | Abnormal thumb Hypoplastic thenar eminence | Mild thumb anomaly | Bilateral toe syndactyly, microcephaly |
| Scoliosis | ||||
| Mild pes planus | ||||
| Urogenital | Normal | Normal | Normal | Bilateral ectopic kidneys |
| Ears/Hearing | Small canals | Normal | Small canals | Normal |
| Gastrointestinal | Normal | Normal | Normal | Normal |
| Cardiopulmonary | Normal | Severe asthma | Normal | L. Superior vena cava, ASD |
| Eyes/Vision | Esotropia | Normal | Normal | Microophthalmia, Esotropia |
| Development | Normal | Normal | Normal | Severe, Global delay |
*
coordinates are in accord with UCSC genome build hg19
**
predicted
BMF = Bone Marrow Failure
BMT = Bone Marrow Transplantation
GenBank reference sequence for FANCA:NM_000135.2, and SLX4: NM_032444.2